Variant report

Variant	rs9973385
Chromosome Location	chr2:62796188-62796189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11125928	1.00[ASN][1000 genomes]
rs11689464	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11901966	0.96[ASN][1000 genomes]
rs12713460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13008096	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs13017269	0.86[ASN][1000 genomes]
rs17025805	0.82[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs4672533	0.86[JPT][hapmap]
rs6545956	1.00[ASN][1000 genomes]
rs6709361	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750204	0.81[JPT][hapmap]
rs7577534	0.86[CHB][hapmap]
rs9973891	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3336776	chr2:62747914-62813461	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62791000-62796400	Enhancers	HepG2	liver
2	chr2:62793000-62796400	Weak transcription	NHDF-Ad	bronchial
3	chr2:62793000-62798000	Weak transcription	NHLF	lung
4	chr2:62793800-62796200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:62794400-62798000	Weak transcription	HUVEC	blood vessel
6	chr2:62794600-62796400	Enhancers	Liver	Liver
7	chr2:62794600-62797600	Enhancers	Fetal Intestine Small	intestine
8	chr2:62794800-62796800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:62794800-62796800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:62794800-62797400	Enhancers	Hela-S3	cervix
11	chr2:62795000-62796800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:62795200-62797000	Enhancers	Fetal Intestine Large	intestine
13	chr2:62795400-62797200	Weak transcription	Ovary	ovary
14	chr2:62795400-62797200	Weak transcription	Pancreas	Pancrea
15	chr2:62795400-62797200	Weak transcription	Spleen	Spleen
16	chr2:62795400-62797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:62795400-62798000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:62795600-62796600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:62795600-62796600	Weak transcription	Osteobl	bone
20	chr2:62795600-62797200	Flanking Active TSS	A549	lung
21	chr2:62795600-62798000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:62795600-62798000	Weak transcription	Right Atrium	heart
23	chr2:62796000-62796400	Weak transcription	Fetal Kidney	kidney
24	chr2:62796000-62798600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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